Table 2.
WHO-classified G6PD deficiency alleles observed in this study. Locus refers to GRCh37, dbSNP137 and Ensembl build 84. WHO refers to grade of G6PD deficiency based on the WHO classification scheme. Allele frequency is calculated in population controls. GM Gambia; ML, Mali; BF, Burkina Faso; GH-N, Ghana (Noguchi); GH-K, Ghana (Kumasi); NG Nigeria; CM, Cameroon; KY, Kenya; TZ, Tanzania; MW, Malawi; VN, Vietnam; PNG, Papua New Guinea.
SNP |
Locus |
Base change |
WHO |
Allele frequency |
|||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GM |
ML |
BF |
GH-N |
GH-K |
NG |
CM |
KY |
TZ |
MW |
VN |
PNG |
||||
CM973154 |
153760261 |
A/C |
I |
0.0004 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
rs72554665 |
153760484 |
C/A |
II |
0.0004 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0055 |
0.0000 |
CM920290 |
153760605 |
G/A |
II |
0.0002 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0014 |
0.0028 |
rs137852342 |
153761184 |
G/A |
III |
0.0000 |
0.0020 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0014 |
0.0000 |
rs76723693 |
153761240 |
968T>C |
III |
0.0695 |
0.0082 |
0.0009 |
0.0000 |
0.0003 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
rs137852327 |
153761337 |
C/T |
II |
0.0006 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0096 |
0.0141 |
153761820 |
T/A |
II |
0.0004 |
0.0000 |
0.0000 |
0.0000 |
0.0008 |
0.0000 |
0.0000 |
0.0004 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
|
rs137852328 |
153762340 |
680G>T |
III |
0.0002 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
rs137852330 |
153762605 |
G/A |
II |
0.0004 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0003 |
0.0000 |
rs5030868 |
153762634 |
563G>A |
II |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0003 |
0.0000 |
0.0000 |
0.0000 |
0.0085 |
rs5030872 |
153762655 |
542A>T |
II |
0.0145 |
0.0041 |
0.0009 |
0.0000 |
0.0003 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
CM970547 |
153763462 |
G/A |
II |
0.0008 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
rs78365220 |
153763485 |
A/G |
II |
0.0002 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0000 |
0.0366 |
rs1050829 |
153763492 |
376T>C |
IV |
0.3206 |
0.4132 |
0.4186 |
0.4476 |
0.4267 |
0.5574 |
0.3429 |
0.4060 |
0.3787 |
0.3920 |
0.0000 |
0.0000 |
rs1050828 |
153764217 |
202C>T |
III |
0.0273 |
0.1616 |
0.1447 |
0.1713 |
0.1847 |
0.3167 |
0.1075 |
0.1930 |
0.2071 |
0.1988 |
0.0000 |
0.0000 |